Gamma knife stereotactic radiosurgery yields good long-term outcomes for low-volume uveal melanomas without intraocular complications

We present the outcomes of 35 uveal melanoma patients treated with gamma knife stereotactic radiosurgery. All cases were previously untreated. During follow-up, regular MRI examinations were used to detect any changes in tumor size and estimate the local long-term tumor control rate. Treatment-related complications were also recorded. During follow-up, systemic dissemination was observed in two patients, one of whom died of metastases. The most frequent complication was retinal detachment (17.1%). Three patients required enucleation. Cumulative 1-year and 3-year local tumor growth control rates were 97% and 83%, respectively. The mean and median times to local tumor progression were 48.0 and 51.7 months, respectively. Gamma knife surgery may be a suitable alternative for the treatment of low-volume uveal tumors without intraocular complications, as the control rate and long-term outcomes compare favorably with those of surgical excision and brachytherapy.     

A homoallelic FECH mutation in a patient with both erythropoietic protoporphyria and palmar keratoderma

Background Erythropoietic protoporphyria (EPP) is a hereditary disorder caused by the deficiency of ferrochelatase (FECH) in the haem biosynthetic pathway. In the majority of families, EPP is transmitted as a pseudodominant trait. Autosomal recessive form of EPP is found in only about 3% of the families. Objectives In this study, we describe a 6‐year‐old boy who suffered from both EPP and palmar keratoderma. Methods and Results A novel homoallelic missense mutation (p.Ser318Tyr) was identified in the FECH gene. In addition, a region of homozygosity of approximately 6.8 Mb was observed in chromosome 18 of the patient by both microsatellite and SNP array. The parents of the patient, both of Palestinian (Jordanian) origin, were heterozygous for the S318Y mutation, although no history of consanguinity was known. Microsatellite genotyping identified a partial haplotype from each parent that corresponds to the region of homozygosity in the patient. Assuming S318Y is a founder mutation, the number of generations separating the two parents from their common ancestor from whom they inherited S318Y was estimated as 21.7 (95% CI 3.42–69.7). Conclusion EPP was therefore inherited as an autosomal recessive trait in the family. This study confirms the association between palmar keratoderma and autosomal recessive EPP.     

Serum luteinizing hormone,follicle-stimulating hormone and oestradiol pattern in women undergoing pituitary suppression with different gonadotrophin-releasing hormone analogue protocols for assisted reproduction

Gonadotrophin-releasing hormone analogues (GnRH-a) are used widely in controlled ovarian stimulation (COS) cycles for assisted reproduction. At present, there is great debate about the influence of exogenous hormone activity on the hypothalamus–pituitary axis following pituitary desensitization. The objective of this comparative study was to investigate the pattern of luteinizing hormone (LH), follicle-stimulating hormone (FSH) and oestradiol in women undergoing ovarian stimulation with different GnRH-a preparations. We retrospectively analysed 201 women, aged between 27 and 43 years, who were referred consecutively to our infertility clinic between January 2002 and January 2003. All women had no endocrinopathies or occult ovarian failure as assessed by day-3 hormone profile. Women were enrolled in one of the following COS protocols: depot triptorelin long protocol (n?=?38), buserelin long protocol (n?=?101) or buserelin short protocol (n?=?62). Recombinant FSH was used to induce ovulation. Treatment was monitored by transvaginal ultrasound scan and serum measurement of FSH, LH and oestradiol. Among the women initially included, 30 had cancelled cycles due to poor ovarian response. Serum LH levels were significantly higher in the short-protocol group compared with the long-protocol groups (p?<?0.001). The number of follicles, oocyte yield, number of grade-I embryos and fertilization rate were significantly lower in the short-protocol group than in the long-protocol groups. These findings showed that LH concentrations are significantly higher in women undergoing reversible medical hypophysectomy with a GnRH-a short protocol than in women treated with a long protocol. The hypothesis of an LH ceiling is confirmed.     

Comparison of Preincisional Infiltrated Levobupivacaine and Ropivacaine for Acute Postoperative Pain Relief After Septorhinoplasty

Background

To maintain a high standard of patient care, it is essential to provide adequate pain management in patients who undergo nasal surgery. Levobupivacaine and ropivacaine are relatively new long-acting local anesthetics.

Objective

The aim of this study was to compare the analgesic effect and blood loss of preincisional levobupivacaine HCl 0.25% and ropivacaine HCl 0.375% in patients undergoing septorhinoplasty.

Methods

Sixty American Society of Anesthesiologists (ASA) I and II patients (18–55 years old) who were scheduled for elective open technique septorhinoplasty under general anesthesia were recruited for this study. The anesthetic technique was standardized for both groups. Preoperative and postoperative hemoglobin levels were recorded for all patients. Patients were assigned randomly to 1 of 2 study groups, and preincisional surgical field infiltration with 5 mL of 0.5% levobupivacaine plus 5 mL of 0.9% saline (group L; n = 30) or 5 mL of 0.75% ropivacaine plus 5 mL of 0.9% saline (group R; n = 30) was performed by the same surgeon. The degree of pain was measured by visual analogue scale (VAS) for pain and recorded at multiple time points in all patients after surgery.

Results

The analgesic effect at 2 hours in the postanesthesia care unit (PACU) and at 24 hours postoperatively did not differ significantly between the 2 local anesthetics (P > 0.05). Pain scores of patients decreased after the 24 hours in levobupivacaine group and ropivacaine group when compared with 0-minute VAS values, and this was statistically significant (P < 0.05). No significant difference was observed between groups with respect to the preoperative and postoperative hemoglobin (P = 0.767 and 0.824, respectively) values.

Conclusions

Local tissue infiltration with 0.25% levobupivacaine or 0.375% ropivacaine is similarly effective in reducing the postoperative pain associated with septorhinoplasty.     

论高等医学院校普及医院信息系统课程

在我国,医院信息系统已是现代化医院工作的支撑环境。高等医学院校的医院信息系统课程留白,可能削弱医学生临床工作能力和职业适应力。文章阐明了高等医学院校开设医院信息系统专业课的重要性,讨论了教学目标、教学内容;详细介绍了高校与医院合作建立HIS实验室、实地教学和针对专业掌握实际操作技能的教学方法。     

The comparison of the effects of dexmedetomidine and midazolam sedation on electroencephalography in pediatric patients with febrile convulsion

Background: When electroencephalogram (EEG) activity is recorded for diagnostic purposes, the effects of sedative drugs on EEG activity should be minimal. This study compares the sedative efficacy and EEG effects of dexmedetomidine and midazolam. Subjects and methods: EEG recordings of 60 pediatric subjects with a history of simple febrile convulsions were performed during physiologic sleep. All of these patients required sedation to obtain follow‐up (control) EEGs. Subjects in Group D received 0.5 μg·kg^?1 of dexmedetomidine, and those in Group M received 0.1 mg·kg^?1 of midazolam. For rescue sedation, the same doses were repeated to maintain a Ramsey sedation score level of between 4 and 6. Results: The mean doses that were required for sedation were 0.76 μg·kg^?1 of dexmedetomidine and 0.38 mg·kg^?1 of midazolam. Diastolic blood pressure and HR were lower in Group D than in Group M (P < 0.05). Hypoxia was observed in 11 (36.7%) subjects in Group M and none in Group D; this was statistically significant (P < 0.001). Frontal and parieto‐occipital (PO) EEG frequencies were similar during physiologic sleep and dexmedetomidine sedation. However, EEG frequencies in these areas (P < 0.001) and PO EEG amplitude (P = 0.030) were greater during midazolam sedation than during physiologic sleep. Conclusions: Dexmedetomidine is a suitable agent to provide sedation for EEG recording in children. There is less change in EEG peak frequency and amplitude after dexmedetomidine than after midazolam sedation.     

Heart rate turbulence and heart rate variability in patients with atrial synchronous ventricular pacing

Background: Heart rate turbulence (HRT) and heart rate variability (HRV) have been shown to be independent and powerful predictors of mortality in a specific group of cardiac patients. Pacing has unfavorable effects on autonomic function. Our aim is to investigate autonomic responses to atrial synchronous ventricular pacing (VDD) by evaluating HRT and HRV parameters.
Methods and Results: The study groups comprised 12 control and 12 patients without organic heart disease and with normal sinus function who were implanted with a permanent VDD pacing system for high-degree atrioventricular block. The HRV and HRT analysis were assessed from a 24-hour Holter recording. There was no statistically significant difference between the two groups for HRV parameters. When HRT parameters were compared, turbulence onset was significantly higher in the cardiac paced group than the controls group (2.729 ± 8.818 vs –1.565 ± 8.301, P = 0.006), but no statistically significant difference was found between the two groups for turbulence slope (11.166 ± 10.034 vs 31.675 ± 28.107, P = 0.68). The number of patients who had abnormal HRT onset was significantly higher in the paced group than controls (9 vs 2, P = 0.004).
Conclusion: Atrial synchronous pacing has unfavorable effects on autonomic function. Altered ventricular depolarization sequence may lead to changes in autonomic response. Although we found no difference in HRV parameters between the control and VDD patient groups, the HRT onset and number of patients with abnormal HRT onset was significantly higher in VDD patients. HRT onset can be a better way of noninvasive autonomic response predictor in VDD patients.     

Mice with an aspartylglucosaminuria mutation similar to humans replicate the pathophysiology in patients

Aspartyglucosaminuria (AGU) is a lysosomal storage disease with autosomal recessive inheritance that is caused by deficient activity of aspartylglucosaminidase (AGA), a lysosomal enzyme belonging to the newly described enzyme family of N-terminal hydrolases. An AGU mouse model was generated by targeted disruption of the AGA gene designed to mimic closely one human disease mutation. These homozygous mutant mice have no detectable AGA activity and excrete aspartylglucosamine in their urine. Analogously to the human disease, the affected homozygous animals showed storage in lysosomes in all analyzed tissues, including the brain, liver, kidney and skin, and lysosomal storage was already detected in fetuses at 19 days gestation. Electron microscopic studies of brain tissue samples demonstrated lysosomal storage vacuoles in the neurons and glia of the neocortical and cortical regions. Magnetic resonance images (MRI) facilitating monitoring of the brains of living animals indicated cerebral atrophy and hypointensity of the deep gray matter structures of brain-findings similar to those observed in human patients. AGU mice are fertile, and up to 11 months of age their movement and behavior do not differ from their age-matched littermates. However, in the Morris water maze test, a slow worsening of performance could be seen with age. The phenotype mimics well AGU in humans, the patients characteristically showing only slowly progressive mental retardation and relatively mild skeletal abnormalities.      

Glycoprotein IIb and IIIa retention on fibrinogen-coated surfaces after lysis of adherent platelets

The platelet-membrane glycoprotein IIb-IIIa (GPIIb-IIIa) complex is essential for platelet aggregation and is involved in the attachment of platelets to thrombogenic surfaces. This study shows the retention of GPIIb and GPIIIa on immobilized fibrinogen after Triton X-100 (Sigma Chemical Co, St Louis, MO) lysis of adherent platelets. Glycoproteins were detected using subunit specific monoclonal antibodies in a modified enzyme-linked immunosorbent assay procedure. GPIIb-IIIa retention was judged to be specific relative to GPIb recovery, and was modulated by platelet activation. Platelet exposure to adenosine diphosphate or thrombin, but not A23187 or chymotrypsin, markedly enhanced GPIIb and GPIIIa recovery relative to that observed with unstimulated platelets, or prostaglandin E1-treated platelets. Moreover, lysis of adherent platelets in the presence of 10 mmol/L EDTA, under conditions promoting GPIIb-IIIa complex dissociation (pH 8.1, 60 minutes, 37 degrees C), had no effect on GPIIb or GPIIIa subunit recovery. Platelet activation with Zn+2 also enhanced GPIIb and GPIIIa recovery on fibrinogen-coated surfaces over that observed with unstimulated platelets, but GPIIb and IIIa retention was EDTA sensitive. This correlated with the EDTA-reversible nature of Zn+2- activated platelet adhesion to fibrinogen-coated surfaces. The data (1) show that platelet adhesion to fibrinogen is accompanied by the induction of high-affinity interactions between GPIIb-IIIa and immobilized fibrinogen that are EDTA-resistant and enhanced by platelet activation with some but not all agonists, and (2) implicate these interactions in stabilizing platelet contacts with fibrinogen-coated surfaces.     

Plasma homocysteine levels in patients with isolated coronary artery ectasia

OBJECTIVE: Hyperhomocysteinemia is recognized as an independent risk factor for arterial disease including coronary artery disease, cerebrovascular disease and peripheral vascular disease. Previously, an association between increased plasma homocysteine level and peripheral arterial aneurysms has been reported. However, the relationship between coronary artery ectasia (CAE) and plasma homocysteine level has not been investigated. Accordingly, this study was designed to investigate plasma homocysteine level in patients with isolated CAE. METHODS: Thirty-two patients with isolated CAE without significant stenosis and 30 control subjects with angiographically normal coronary arteries were included in this study. Fasting plasma homocysteine concentrations were measured by Fluorescence Polarization Immunoassay method using homocysteine kids. Hyperhomocysteinemia is defined as plasma homocysteine levels above the 95th percentile of the control subjects (13.6 mumol/l). RESULTS: According to the definition of hyperhomocysteinemia, 19 (59%) of patients with isolated CAE had elevated levels of plasma homocysteine compared to 2 (7%) in the control subjects with angiographically normal coronary arteries (p<0.001). In addition, patients with isolated CAE had significantly higher levels of plasma homocysteine compared to control subjects (14.9+/-4.5 micromol/l vs. 8.6+/-1.9 micromol/l respectively, p<0.001). Besides, we detected a significant positive correlation between the number of ectasic segment and plasma homocysteine level (r=0.537, p=0.002). CONCLUSION: We have shown for the first time an association between elevated plasma homocysteine level and isolated CAE. Larger prospective studies are needed to confirm the role of hyperhomocysteinemia in CAE and to evaluate the usefulness of homocysteine-lowering therapies.